Canonical Allele Identifier: CA1750841604

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1800280633

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147571124_147571125insA , CM000669.2:g.147571124_147571125insA	GRCh38
NC_000007.13:g.147268216_147268217insA , CM000669.1:g.147268216_147268217insA	GRCh37
NC_000007.12:g.146899149_146899150insA	NCBI36
NG_007092.2:g.1459764_1459765insA
NG_007092.3:g.1460124_1460125insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1897+8867_1897+8868insA MANE Select	ENSP00000354778.3:n.1897+8867_1897+8868insA
ENST00000636870.1:n.1759+8867_1759+8868insA
ENST00000637825.1:n.1380+8867_1380+8868insA
ENST00000638117.1:n.1800+8867_1800+8868insA
ENST00000361727.7:c.1897+8867_1897+8868insA	ENSP00000354778.3:n.1897+8867_1897+8868insA
NM_014141.5:c.1897+8867_1897+8868insA	NP_054860.1:n.1897+8867_1897+8868insA
XM_006715919.1:c.385+8867_385+8868insA	XP_006715982.1:n.385+8867_385+8868insA
XM_017011950.2:c.1897+8867_1897+8868insA	XP_016867439.1:n.1897+8867_1897+8868insA
NM_014141.6:c.1897+8867_1897+8868insA MANE Select	NP_054860.1:n.1897+8867_1897+8868insA